ClinVar Miner

List of variants in gene ABCC8 reported as benign by Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.2256-50T>C rs4148626 0.89459
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110 0.71935
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=) rs1799859 0.39734
NM_000352.6(ABCC8):c.4119+93G>T rs4148644 0.21307
NM_000352.6(ABCC8):c.2485C>T (p.Leu829=) rs1805036 0.14682
NM_000352.6(ABCC8):c.330C>T (p.Ala110=) rs8192695 0.06691
NM_000352.6(ABCC8):c.3329+6C>T rs113873225 0.01304
NM_000352.4(ABCC8):c.-72G>A rs541244107 0.00426
NM_000352.6(ABCC8):c.4368C>T (p.Ile1456=) rs193922403 0.00019
NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=) rs562715858 0.00008
NM_000352.6(ABCC8):c.853C>T (p.Arg285Trp) rs773087569 0.00006
NM_000352.6(ABCC8):c.3558-7G>T rs900191703
NM_000352.6(ABCC8):c.4090G>T (p.Val1364Phe) rs138642224
NM_000352.6(ABCC8):c.4307+13A>G rs886048047

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